Results 131 to 140 of about 3,419 (204)

Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes. [PDF]

Mol Syndromol
Bizzari S, Mehawej C, Chouery E, Nair P, Corbani S, Lefranc G, El-Hayek S, Megarbane A.   +7 more
europepmc   +1 more source

Reprise traductionnelle en aval d’un codon stop prématuré et agrégation protéique [PDF]

, 2006
Moumné, Lara, Veitia, Reiner A.
core  

A Retrospective Analysis of the Efficacy of Silicone Sling in the Management of Severe Congenital Ptosis. [PDF]

Cureus
Thacker P, Agarwal R, Rastogi A, Joon A, Agarwal H, Aggarwal P.   +5 more
europepmc   +1 more source

Delayed-Onset Type 1 Kounis Syndrome Caused Ventricular Fibrillation: A Case Report. [PDF]

Anatol J Cardiol
Cui H, Li Y, Liu Y.
europepmc   +1 more source

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant. [PDF]

Int J Mol Sci
Kim KH, Han JY, Park J, Cho JS.
europepmc   +1 more source

Can single stage surgery in Blepharophimosis syndrome be practiced universally?

Indian Journal of Ophthalmology, 2013
Ruchi Goel, Amit Goel
doaj   +1 more source

Perioperative Management of a Pediatric Patient With Koolen-de Vries Syndrome Presenting for Posterior Spinal Fusion. [PDF]

J Med Cases
Soliman A, Schmidt J, Tobias JD, Smith A.   +3 more
europepmc   +1 more source

Abstract QS43: Blepharophimosis Ptosis Epicanthus Inversus Syndrome Caused by a ZC3H13 Gene Mutation

Plastic and Reconstructive Surgery, Global Open, 2018
Daniel M. Balkin, MD, PhD, Carol Nelson-Williams, BS, MS, Brandon J. Sumpio, BA, Daryl A. Scott, MD, PhD, Pierre Le Pabic, PhD, Thomas F. Schilling, PhD, Richard P. Lifton, MD, PhD, Deepak Narayan, MD   +7 more
doaj   +1 more source

Editorial: The etiology and pathogenesis of craniomaxillofacial birth defects. [PDF]

Front Dent Med
Zhao H, Huang W, Liu H, Pan Y.
europepmc   +1 more source

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation. [PDF]

HGG Adv
McGivern B, Holling T, Guillen Sacoto MJ, Gudbjartsson H, Abdelrazek IM, Alawi M, Bai Y, Bodamer O, Crunk A, Dameron AE, Dyer LM, Henderson LB, Irons M, Kutsche K, McGowan C, Monaghan KG, O'Connor K, Rashid A, Redlich OL, Reich A, Simotas C, Welner S, Wentzensen IM.   +22 more
europepmc   +1 more source